Molecular Characterization of a Deletion in theHPRT1Gene in a Patient with Lesch–Nyhan Syndrome
Author:
Publisher
Informa UK Limited
Subject
Genetics,Molecular Medicine,Biochemistry,General Medicine
Link
http://www.tandfonline.com/doi/pdf/10.1080/15257770.2011.608396
Reference13 articles.
1. Delineation of the motor disorder of Lesch–Nyhan disease
2. A new method for the detection of Lesch-Nyhan heterozygotes by peripheral blood T cell culture using T cell growth factor
3. Measurement of in vivo HGPRT-deficient mutant cell frequency using a modified method for cloning human peripheral blood T-lymphocytes
4. Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency
5. UCSC Genome Bioinformatics. Based on the data of GRCh37/hg19 available athttp://www.genome.ucsc.edu/cgi-bin/hgGateway(as of February 15, 2011)
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Ethical implications of early genetic diagnosis in an infant with Lesch–Nyhan syndrome;Journal of Genetic Counseling;2022-08-02
2. Lesch–Nyhan disease with no HPRT1 gene mutation?;Revista Clínica Española;2014-11
3. Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder;Brain;2013-08-22
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